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Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa

Title
Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa
Authors
Kim, Kwang JoongKim, CinooBok, JeongKim, Kyung-SeonLee, Eun-JuPark, Sung PyoChung, HumHan, Bok-GheeKim, Hyung-LaeKimm, KuchanYu, Hyeong GonLee, Jong-Young
Ewha Authors
김형래
SCOPUS Author ID
김형래scopus
Issue Date
2011
Journal Title
MOLECULAR VISION
ISSN
1090-0535JCR Link
Citation
vol. 17, no. 95, pp. 844 - 853
Publisher
MOLECULAR VISION
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Purpose: To determine the spectrum and frequency of rhodopsin gene (RHO) mutations in Korean patients with retinitis pigmentosa (RP) and to characterize genotype-phenotype correlations in patients with mutations. Methods: The RHO mutations were screened by direct sequencing, and mutation prevalence was measured in patients and controls. The impact of missense mutations to RP was predicted by segregation analysis, peptide sequence alignment, and in silico analysis. The severity of disease in patients with the missense mutations was compared by visual acuity, electroretinography, optical coherence tomography, and kinetic visual field testing. Results: Five heterozygous mutations were identified in six of 302 probands with RP, including a novel mutation (c. 893C > A, p.A298D) and four known mutations (c.50C > T, p.T17M; c.533A > G, p.Y178C; c.888G > T, p.K296N; and c. 1040C > T, p.P347L). The allele frequency of missense mutations was measured in 114 ethnically matched controls. p.A298D, newly identified in a sporadic patient, had never been found in controls and was predicted to be pathogenic. Among the patients with the missense mutations, we observed the most severe phenotype in patients with p.P347L, less severe phenotypes in patients with p.Y178C or p.A298D, and a relatively moderate phenotype in a patient with p.T17M. Conclusions: The results reveal the spectrum of RHO mutations in Korean RP patients and clinical features that vary according to mutations. Our findings will be useful for understanding these genetic spectra and the genotype-phenotype correlations and will therefore help with predicting disease prognosis and facilitating the development of gene therapy.
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의학전문대학원 > 의학과 > Journal papers
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